ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.3047G>A (p.Arg1016Lys) (rs141109968)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000416110 SCV000241299 uncertain significance not provided 2016-07-26 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the GRIN2B gene. The R1016K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved in mammals. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with GRIN2B-related disorders (Stenson et al., 2014). Additionally, the R1016K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416110 SCV000493646 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV000416110 SCV000659529 benign not provided 2017-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718620 SCV000849484 uncertain significance History of neurodevelopmental disorder 2017-05-24 criteria provided, single submitter clinical testing Insufficient evidence

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.